Mutagenetix > Incidental Mutation

Incidental Mutation 'R3777:Or2d4'

271835

Institutional Source

Beutler Lab

Gene Symbol

Or2d4

Ensembl Gene

ENSMUSG00000045581

Gene Name

olfactory receptor family 2 subfamily D member 4

Synonyms

MOR260-3, Olfr710, GA_x6K02T2PBJ9-9325348-9324416

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106543274-106547519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106543519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 230 (S230T)

Ref Sequence

ENSEMBL: ENSMUSP00000062956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055923]

AlphaFold

Q9EP55

Predicted Effect

probably benign
Transcript: ENSMUST00000055923
AA Change: S230T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062956
Gene: ENSMUSG00000045581
AA Change: S230T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.9e-9	PFAM
Pfam:7tm_1	41	290	1.2e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dsg1b	G	A	18: 20,532,644 (GRCm39)	V563I	probably damaging	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fam171b	T	A	2: 83,708,605 (GRCm39)	I369K	probably benign	Het
Fmn1	A	G	2: 113,195,467 (GRCm39)	E389G	unknown	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Grip1	G	A	10: 119,821,535 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,428,229 (GRCm39)	L789I	possibly damaging	Het
Hsd17b1	T	C	11: 100,969,529 (GRCm39)	S59P	probably damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Larp4	T	A	15: 99,888,238 (GRCm39)	W92R	probably damaging	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mfsd4b2	A	G	10: 39,797,527 (GRCm39)	I276T	possibly damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Myo18b	T	A	5: 112,905,462 (GRCm39)	E2045D	probably damaging	Het
Mypn	T	C	10: 62,983,761 (GRCm39)	T496A	possibly damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Or13c3	A	T	4: 52,855,636 (GRCm39)	N292K	probably damaging	Het
Or4b13	T	C	2: 90,082,969 (GRCm39)	Y121C	probably damaging	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Or8g33	A	T	9: 39,337,901 (GRCm39)	S155R	possibly damaging	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Pik3cg	A	C	12: 32,244,708 (GRCm39)	C915W	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Rapgef1	C	T	2: 29,609,701 (GRCm39)	H675Y	possibly damaging	Het
Rpn2	T	A	2: 157,141,477 (GRCm39)	V263D	probably damaging	Het
Rps13	A	G	7: 115,933,160 (GRCm39)	L16P	probably damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Semp2l2b	T	C	10: 21,942,861 (GRCm39)	E373G	probably damaging	Het
Smarcc2	G	A	10: 128,318,812 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Spag9	G	A	11: 93,989,852 (GRCm39)		probably null	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syt17	A	G	7: 118,033,180 (GRCm39)	L215P	probably damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tph2	T	C	10: 114,915,910 (GRCm39)	D421G	probably benign	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Vdac3	T	C	8: 23,070,525 (GRCm39)	N128D	probably benign	Het
Vegfb	G	A	19: 6,964,767 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	probably damaging	Het

Other mutations in Or2d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Or2d4	APN	7	106,543,748 (GRCm39)	missense	possibly damaging	0.77
IGL01534:Or2d4	APN	7	106,543,546 (GRCm39)	missense	probably damaging	1.00
IGL02041:Or2d4	APN	7	106,543,320 (GRCm39)	missense	possibly damaging	0.78
IGL02414:Or2d4	APN	7	106,543,965 (GRCm39)	missense	probably benign	0.33
IGL02695:Or2d4	APN	7	106,543,870 (GRCm39)	missense	possibly damaging	0.93
IGL03167:Or2d4	APN	7	106,543,852 (GRCm39)	missense	probably damaging	0.99
IGL03242:Or2d4	APN	7	106,544,125 (GRCm39)	missense	possibly damaging	0.59
R1985:Or2d4	UTSW	7	106,544,133 (GRCm39)	missense	probably benign	0.00
R2234:Or2d4	UTSW	7	106,543,827 (GRCm39)	missense	probably damaging	1.00
R3414:Or2d4	UTSW	7	106,543,383 (GRCm39)	nonsense	probably null
R3731:Or2d4	UTSW	7	106,543,684 (GRCm39)	missense	probably damaging	0.99
R4646:Or2d4	UTSW	7	106,543,547 (GRCm39)	missense	probably benign	0.01
R4647:Or2d4	UTSW	7	106,543,547 (GRCm39)	missense	probably benign	0.01
R4661:Or2d4	UTSW	7	106,544,074 (GRCm39)	missense	probably damaging	0.98
R4679:Or2d4	UTSW	7	106,544,152 (GRCm39)	missense	probably benign	0.10
R5200:Or2d4	UTSW	7	106,544,187 (GRCm39)	missense	possibly damaging	0.77
R5495:Or2d4	UTSW	7	106,543,699 (GRCm39)	nonsense	probably null
R6744:Or2d4	UTSW	7	106,543,741 (GRCm39)	missense	probably damaging	1.00
R6908:Or2d4	UTSW	7	106,543,839 (GRCm39)	missense	possibly damaging	0.82
R7463:Or2d4	UTSW	7	106,543,380 (GRCm39)	missense	probably damaging	0.99
R7498:Or2d4	UTSW	7	106,543,575 (GRCm39)	missense	possibly damaging	0.93
R8686:Or2d4	UTSW	7	106,543,905 (GRCm39)	missense	probably benign	0.01
R9283:Or2d4	UTSW	7	106,543,806 (GRCm39)	missense	probably benign	0.01
RF003:Or2d4	UTSW	7	106,543,855 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATGGGTTCATCATGGATGTTAC -3'
(R):5'- TGCTAGTTGTAGGATCCTGGAC -3'

Sequencing Primer
(F):5'- GGTTCATCATGGATGTTACTATTGAG -3'
(R):5'- ACTTTATGCTTGACGTACCGG -3'

Posted On

2015-03-25